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Ring X Mosaicism in a Proband with Turner Syndrome

R., Vallabhajosyula and S., Rajangam (2009) Ring X Mosaicism in a Proband with Turner Syndrome. Malaysian Journal of Medicine and Health Sciences, 5 (2). pp. 63-68. ISSN 1675-8544

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Introduction: Ring formation, a structural chromosomal abnormality, is frequently observed in X chromosome. This article reports the 45,X along with 46,X, r(X) cell lines and its associations to the observed phenotypic features in an Indian female proband aged 15 years. Methods: The karyotype was determined from peripheral lymphocyte culture and Giemsa-Trypsin banding technique. Results: The karyotype was 45,X/46,X,r(X) (p11q13) (18%82%). The presence of 45,X and ring X in mosaicism status indicates that the karyotype is a Turner syndrome variant. The variably manifested phenotypic features in the proband could be due to the presence of single X, the lost segments in ring X and the mosaicism status for the X. Conclusion: During counseling, proband’s chromosomal status and its effect were explained to the proband’s parents. Parents were also counselled about the importance of medical management, education and career to the proband.

Item Type:Article
Faculty or Institute:Faculty of Medicine and Health Science
Publisher:Universiti Putra Malaysia
ID Code:7743
Deposited By: Mohd Zulkifly Othman
Deposited On:19 Aug 2010 15:36
Last Modified:27 May 2013 15:36

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